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Introduction: Liver involvement is commonly seen in disseminated T cell lymphoma; however, it is rarely the presenting organ. Here, we describe a case of T cell lymphoma presenting as acute hepatobiliary disease leading to hepatic failure and death., Discussion: Forty-seven-year-old male with history of cirrhosis (etiology undetermined), diabetes mellitus, and pancytopenia was admitted to ICU for hypotension and failure to thrive. He had icterus, minimal ascitis, and hepatosplenomegaly on physical examination. No lymphadenopathy was noted. Laboratory workup on admission showed elevated total bilirubin (10.1 mg/dl) and liver enzymes. Serology for acute viral hepatitis, human immunodeficiency virus, Epstein-Barr virus, and autoimmune hepatitis was negative. CT abdomen showed cirrhotic liver with heterogeneous arterial enhancement of the liver without definite mass lesions. Hospital course was complicated by progressively worsening hypotension, respiratory failure, profound acidosis, disseminated intravascular coagulation, and multi-organ system failure leading to death on hospital day 12. Autopsy of the liver showed cirrhotic changes with infiltration with atypical small lymphocytes confined to septa which were CD3 and CD5 positive (CD4 weakly positive, CD8, CD20, CD57, CD56, CD30, Alk-1, granzyme B, TIA1, and S100 negative). Unusual clinical/histological features include (1) initial clinical presentation of hepatic dysfunction without obvious physical signs of lymphoma, (2) negative workup for viral, toxic, autoimmune, and metabolic liver disease, (3) involvement of the entire liver, observed as heterogeneous enhancement of liver without any focal mass lesion as seen on CT scan, (4) an aggressive nature of disease, and (5) autopsy of liver with T cell infiltration confined to septa. Initial diagnosis was challenging due to unusual clinical presentation suggesting inflammatory hepatobiliary disease and the absence of enlarged lymph nodes., Conclusion: In conclusion, early suspicion of this aggressive lymphoma is important and should be considered in the evaluation of a patient whose course is atypical for hepatitis. Even in the absence of a mass lesion or lymphadenopathy, hepatosplenic T cell lymphoma should be included in the differential diagnosis of acute hepatic dysfunction in a patient who has no evidence of viral, toxic, autoimmune, or metabolic liver disease.

Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. Here we show that mice heterozygous for a targeted null mutation of Blm, the murine homolog of BLM, develop lymphoma earlier than wild-type littermates in response to challenge with murine leukemia virus and develop twice the number of intestinal tumors when crossed with mice carrying a mutation in the Apc tumor suppressor. These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans.

Bloom's syndrome (BS) is a rare, autosomal recessive disease characterized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashkenazi Jewish population (German, 1993). The isolation of the gene for BS, known as BLM, has permitted the identification of mutations within the gene and the discovery that most BS individuals of Ashkenazi Jewish origin carry the identical 6-bp deletioin/7-bp insertion at position 2,281 of BLM (blmAsh). We have developed a rapid method for detecting blmAsh based on restriction enzyme digestion of a PCR product containing the mutation. blmAsh creates a restriction site within the amplified fragment allowing distinction of normal and mutant DNAs. This method has been designed for use with genomic DNA or cDNA.